(SALT LAKE CITY)—As a postdoctoral fellow at the University of Utah's Eccles Institute of Human Genetics, David H. Viskochil, M.D., Ph.D, led the discovery of the gene that causes neurofibromatosis (NF1). NF1 is a rare condition characterized by the growth of (mostly non-cancerous) tumors along the nervous system in the skin, brain and other areas of the body as well as skin discoloration and freckles in the armpits and groin area.
Since identifying the NF1 gene in 1990, Viskochil, a medical geneticist, professor of pediatrics at the University of Utah School of Medicine and director of the NF clinic at Primary Children's Hospital in Salt Lake City, has dedicated his career to researching the disorder, treating children who have it and mentoring other physicians and scientists who want to help people with the disease. In recognition of his unwavering advocacy for NF patients and significant contributions to NF research, the Children's Tumor Foundation awarded Viskochil its highest honor, the Friedrich von Recklinghausen Award, June 18 at a ceremony at the foundation's annual conference in Austin, Texas. Von Recklinghausen was a 19th century German physician and scientist who pioneered research into NF1 and first characterized the tumors that are a hallmark of the disease.
"For three decades, Dr. Viskochil has played an integral role in the fight against NF, from the lab to the clinic to academia," said Annette Bakker, president and chief scientific officer of the Children's Tumor Foundation. "We are thrilled to recognize him with the von Recklinghausen Award and thank him for his significant contributions, particularly at NF Camp, where for 20 years he has led a lively Q&A session, transforming the lives of young adults living with NF."
Viskochil runs an annual Children's Tumor Foundation camp for those with NF ages 12 to 22 held at Camp Kostopulos outside of Salt Lake City. The camp provides a sense of community, support and friendship and gives children and young adults with NF the chance to leave stress behind and enjoy themselves for six days and nights. He also serves on the Children's Tumor Foundation board of directors and is the leader of clinical trials to treat tumors in Utah.
"I consider him to be the Renaissance man in the field of NF," says John C. Carey, M.D., M.P.H., U of U professor of pediatrics, internationally regarded medical geneticist and prior recipient of the von Recklinghousen Award. "He is a mentor, teacher, researcher, clinician and leader in understanding and treating NF. He's really had a far-reaching impact on this condition that few other people have had."
Kelly Carpenter, whose son has NF, says Viskochil has made great contributions in research and clinical care for those with the disease. Carpenter, who is on the Children's Tumor Foundation Voluntary Leadership Council for Utah, also said the NF clinic at Primary Children's Hospital is hugely important for both patients and their families. Five years ago, she and her husband moved from Cheyenne, Wyo., to Salt Lake City to be close to the clinic. "We came to Utah for a second opinion regarding our son," she says. "The care by Dr. Viskochil and others at the clinic just blew me away."
In 2015, the NF clinic saw 161 patients, with about 90 percent being between 2 and 18 years old. During appointments, Vickochil and clinic genetic counselors take a family pedigree of patients to find out if others in the extended family have NF. If there are others with the disease, Viskochil offers to see them or send information about an NF doctor whom they can see. The clinic runs with a staff of 12 dedicated physicians, genetic counselors, medical assistant and suport and administrative staff.
"Dr. Viskochil is incredibly deserving of the recognition bestowed by the Friedrich von Recklinghausen Award," says Dr. Chris Maloney, chief medical officer of Primary Children's Hospital. "He has devoted his entire professional life to understanding specific disease components of NF1 and making the lives of patients better. It's a privilege to work side by side with Dr. Viskochil, and to see his work impact so many patients and families locally, and around the country."
Accepting the award, Viskochil gave his heartfelt thanks to the Children's Tumor Foundation and said the honor recognizes "a great body of work" of a number of current and former University of Utah clinicians and scientists who've contributed to NF research and clinical care for the past 35 years. Those researchers include: John Carey, Bonnie Baty, Mark Scolnick, Ray White, Richard Cawthon, Jeff Stevens, Peter O'Connell, Roger Wolff, Robert Weiss, and David Stevenson.
"This award is through a nomination process among colleagues, therefore I am grateful to all my collaborators and co-workers to be recognized for my contributions to neurofibromatosis research and clinical care," he said.
NF1, the most common of three distinct types of neurofibromatosis, occurs in one in every 3,000 to 4,000 people in the United States. Some symptoms, such as skin discoloration and freckles are present at birth, with most symptoms appearing by age 10. People with NF have a normal life expectancy.